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CASA Investigators

CASA Principal Investigators:

Lindsay Farrer(Boston University). Dr. Farrer is a genetic epidemiologist and board-certified medical geneticist who has conducted AD genetics research since 1985. He worked on mapping PSEN1 gene, discovery of nicastrin, and the effects of the PSEN1 and APP7 mutations on amyloid plaque deposition. Since 1991, he has directed the MIRAGE Study, the world’s largest genetic epidemiological study of AD. His studies of an inbred Israel-Arab community have enhanced our understanding of genetic factors for AD.

Jonathan L. Haines (Case Western Reserve). Dr. Haines has extensive experience in all aspects of genetic epidemiology with a focus on statistical and computational genomics. Working on AD genetics since 1985, he demonstrated genetic heterogeneity in AD and helped identify PSEN1. He was the principal collaborator with Dr. Pericak- Vance in identifying APOE as the major genetic risk factor for LOAD. He and Dr. Pericak-Vance, have co- authored five of the top 6 most cited Alzheimer’s disease papers published since 1990. He and Dr. Pericak- Vance co-lead a study on genetics of dementia in the large genetically isolated Amish population.

Richard Mayeux (Columbia University). Dr. Mayeux is a neurologist, epidemiologist, and geneticist who brings clinical expertise to CASA. Since 1989, he has worked in AD genetics to assemble multiple cohorts of different ethnicities for the study of AD including the Washington Heights-Inwood Columbia Aging Project (WHICAP), and an extensive collection of cases and controls and multiplex Caribbean families from the Dominican Republic. Dr. Mayeux and Lindsay Farrer (below) identified SORL1 as a LOAD gene.

Margaret A. Pericak-Vance(University of Miami). Dr. Pericak-Vance, a genetic epidemiologist and a board-certified medical geneticist, has worked in AD genetics since 1985. She used linkage analysis of an early-onset family to correctly map an early onset locus to a chromosome 21 interval that contained the APP gene using a family subsequently used to identify the first AD mutation in the APP gene. She identified apolipoprotein E (APOE) as the strongest LOAD risk locus in the genome. This finding was one of the first identifications of a common allele influencing risk for a common disease. She also worked on mapping and cloning PSEN1.

Gerard D. Schellenberg (University of Pennsylvania). Dr. Schellenberg began working on early and late-onset AD in 1986. He and his colleagues assembled early- onset families and used these to map and clone PSEN1 and PSEN2. Recently, Dr. Schellenberg formed the ADGC. The ADGC obtained 14,803 samples from AD cases and controls from the 29 National Institute on Aging (NIA) – funded Alzheimer’s Disease Centers (ADCs).

Additional CASA Investigators:

William Bush(Case Western Reserve) is a human geneticist and bioinformatician with expertise in application of functional and genomic annotation resources to large-scale genetics analysis (Core D).

Kathryn Lunetta (Boston University) is a statistical geneticist who developed methods for population structure analysis, and family-based association analysis (Core B).

Eden Martin (University of Miami) is a senior statistical geneticist with analysis experience in family-based data, association studies and analysis of sequence data, and has a long track record of developing statistical methods for disease gene mapping (Core B).

Adam Naj (University of Pennsylvania) is a genetic epidemiologist focused on family-based and population- based studies of neurodegenerative diseases (Project 2).

Christiane Reitz (Columbia University) is a neurologist with expertise in statistical genetics analysis of neurologic diseases with an emphasis on AD (Project 2).

Jeffery Vance (University of Miami) is a Neurologist who brings both clinical and genetic expertise to CASA (Core B).

Badri Varadarajan (Columbia University) is a bioinformatician working on genomics and genetics of Alzheimer's disease (Project 2).

Li-San Wang (University of Pennsylvania) was trained initially as a computer scientist and subsequently in bioinformatics (Core C and Project 3).

Nancy Zhang (University of Pennsylvania) works on developing algorithms for detecting SVs in sequence and SNP array data (Project 3).